First case report of STAG2 -associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother.
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| Title: | First case report of STAG2 -associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother. |
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| Authors: | Chan JCK; Department of Clinical Genetics, Hong Kong Children's Hospital., Wong TCH; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital., Mo CY; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital., Fung STH; Department of Paediatrics & Adolescent Medicine, Kwong Wah Hospital., Cheng THT; Department of Pathology, Hong Kong Children's Hospital, Kowloon, Hong Kong S.A.R., Cheng SSW; Department of Clinical Genetics, Hong Kong Children's Hospital., Luk HM; Department of Clinical Genetics, Hong Kong Children's Hospital. |
| Source: | Clinical dysmorphology [Clin Dysmorphol] 2025 Oct 01; Vol. 34 (4), pp. 122-125. Date of Electronic Publication: 2025 Jul 15. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE; In Process |
| Database: | MEDLINE Ultimate |
| ISSN: | 1473-5717 |
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| DOI: | 10.1097/MCD.0000000000000537 |
